Incidental Mutation 'IGL02797:Bcs1l'
ID |
360025 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bcs1l
|
Ensembl Gene |
ENSMUSG00000026172 |
Gene Name |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
Synonyms |
9130022O19Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02797
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
74627448-74631602 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 74629620 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027315]
[ENSMUST00000027357]
[ENSMUST00000027358]
[ENSMUST00000027358]
[ENSMUST00000066986]
[ENSMUST00000113721]
[ENSMUST00000113732]
[ENSMUST00000113732]
[ENSMUST00000113733]
[ENSMUST00000113733]
[ENSMUST00000113737]
[ENSMUST00000127921]
[ENSMUST00000156613]
[ENSMUST00000127938]
[ENSMUST00000135140]
|
AlphaFold |
Q9CZP5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027315
|
SMART Domains |
Protein: ENSMUSP00000027315 Gene: ENSMUSG00000026135
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
103 |
127 |
1.16e1 |
SMART |
ZnF_C2H2
|
164 |
186 |
1.26e-2 |
SMART |
ZnF_C2H2
|
193 |
218 |
7.78e-3 |
SMART |
ZnF_C2H2
|
223 |
247 |
2.29e0 |
SMART |
ZnF_C2H2
|
250 |
272 |
9.96e-1 |
SMART |
low complexity region
|
317 |
329 |
N/A |
INTRINSIC |
ZnF_C2H2
|
363 |
385 |
9.96e-1 |
SMART |
ZnF_C2H2
|
391 |
411 |
1.26e1 |
SMART |
ZnF_C2H2
|
419 |
442 |
1.47e-3 |
SMART |
ZnF_C2H2
|
453 |
475 |
2.75e-3 |
SMART |
ZnF_C2H2
|
486 |
511 |
3.34e-2 |
SMART |
ZnF_C2H2
|
516 |
540 |
4.81e0 |
SMART |
ZnF_C2H2
|
543 |
566 |
7.05e-1 |
SMART |
ZnF_C2H2
|
572 |
595 |
2.17e-1 |
SMART |
ZnF_C2H2
|
601 |
623 |
1.56e-2 |
SMART |
ZnF_C2H2
|
629 |
651 |
8.94e-3 |
SMART |
ZnF_C2H2
|
657 |
679 |
1.38e-3 |
SMART |
ZnF_C2H2
|
685 |
707 |
9.44e-2 |
SMART |
ZnF_C2H2
|
712 |
735 |
1.26e-2 |
SMART |
ZnF_C2H2
|
744 |
767 |
1.31e0 |
SMART |
ZnF_C2H2
|
773 |
796 |
2.63e0 |
SMART |
low complexity region
|
903 |
919 |
N/A |
INTRINSIC |
low complexity region
|
953 |
969 |
N/A |
INTRINSIC |
low complexity region
|
996 |
1007 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1039 |
1059 |
2.01e1 |
SMART |
ZnF_C2H2
|
1069 |
1089 |
1.91e1 |
SMART |
low complexity region
|
1147 |
1160 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1187 |
1207 |
2.7e2 |
SMART |
low complexity region
|
1209 |
1222 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1265 |
1285 |
3.56e1 |
SMART |
ZnF_C2H2
|
1295 |
1318 |
4.98e-1 |
SMART |
ZnF_C2H2
|
1331 |
1354 |
2.49e-1 |
SMART |
ZnF_C2H2
|
1360 |
1382 |
1.03e-2 |
SMART |
ZnF_C2H2
|
1388 |
1411 |
5.72e-1 |
SMART |
ZnF_C2H2
|
1417 |
1440 |
6.75e0 |
SMART |
ZnF_C2H2
|
1446 |
1469 |
9.58e-3 |
SMART |
ZnF_C2H2
|
1488 |
1511 |
1.64e-1 |
SMART |
ZnF_C2H2
|
1514 |
1536 |
1.1e-2 |
SMART |
ZnF_C2H2
|
1540 |
1563 |
4.05e-1 |
SMART |
ZnF_C2H2
|
1580 |
1602 |
4.45e0 |
SMART |
ZnF_C2H2
|
1608 |
1630 |
8.81e-2 |
SMART |
ZnF_C2H2
|
1636 |
1658 |
1.18e-2 |
SMART |
ZnF_C2H2
|
1664 |
1686 |
1.2e-3 |
SMART |
ZnF_C2H2
|
1692 |
1715 |
3.89e-3 |
SMART |
ZnF_C2H2
|
1721 |
1743 |
4.54e-4 |
SMART |
ZnF_C2H2
|
1749 |
1771 |
1.18e-2 |
SMART |
ZnF_C2H2
|
1777 |
1799 |
3.52e-1 |
SMART |
low complexity region
|
1829 |
1838 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000027357
|
SMART Domains |
Protein: ENSMUSP00000027357 Gene: ENSMUSG00000026171
Domain | Start | End | E-Value | Type |
RWD
|
18 |
127 |
4.66e-31 |
SMART |
RING
|
134 |
198 |
2.87e-5 |
SMART |
low complexity region
|
368 |
378 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000027358
|
SMART Domains |
Protein: ENSMUSP00000027358 Gene: ENSMUSG00000026172
Domain | Start | End | E-Value | Type |
BCS1_N
|
23 |
191 |
1.29e-86 |
SMART |
AAA
|
222 |
357 |
3.23e-11 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000027358
|
SMART Domains |
Protein: ENSMUSP00000027358 Gene: ENSMUSG00000026172
Domain | Start | End | E-Value | Type |
BCS1_N
|
23 |
191 |
1.29e-86 |
SMART |
AAA
|
222 |
357 |
3.23e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066986
|
SMART Domains |
Protein: ENSMUSP00000065149 Gene: ENSMUSG00000026135
Domain | Start | End | E-Value | Type |
low complexity region
|
116 |
128 |
N/A |
INTRINSIC |
ZnF_C2H2
|
162 |
184 |
9.96e-1 |
SMART |
ZnF_C2H2
|
190 |
210 |
1.26e1 |
SMART |
ZnF_C2H2
|
218 |
241 |
1.47e-3 |
SMART |
ZnF_C2H2
|
252 |
274 |
2.75e-3 |
SMART |
ZnF_C2H2
|
285 |
310 |
3.34e-2 |
SMART |
ZnF_C2H2
|
315 |
339 |
4.81e0 |
SMART |
ZnF_C2H2
|
342 |
365 |
7.05e-1 |
SMART |
ZnF_C2H2
|
371 |
394 |
2.17e-1 |
SMART |
ZnF_C2H2
|
400 |
422 |
1.56e-2 |
SMART |
ZnF_C2H2
|
428 |
450 |
8.94e-3 |
SMART |
ZnF_C2H2
|
456 |
478 |
1.38e-3 |
SMART |
ZnF_C2H2
|
484 |
506 |
9.44e-2 |
SMART |
ZnF_C2H2
|
511 |
534 |
1.26e-2 |
SMART |
ZnF_C2H2
|
543 |
566 |
1.31e0 |
SMART |
ZnF_C2H2
|
572 |
595 |
2.63e0 |
SMART |
low complexity region
|
702 |
718 |
N/A |
INTRINSIC |
low complexity region
|
752 |
768 |
N/A |
INTRINSIC |
low complexity region
|
795 |
806 |
N/A |
INTRINSIC |
ZnF_C2H2
|
838 |
858 |
2.01e1 |
SMART |
ZnF_C2H2
|
868 |
888 |
1.91e1 |
SMART |
low complexity region
|
946 |
959 |
N/A |
INTRINSIC |
ZnF_C2H2
|
986 |
1006 |
2.7e2 |
SMART |
low complexity region
|
1008 |
1021 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1064 |
1084 |
3.56e1 |
SMART |
ZnF_C2H2
|
1094 |
1117 |
4.98e-1 |
SMART |
ZnF_C2H2
|
1130 |
1153 |
2.49e-1 |
SMART |
ZnF_C2H2
|
1159 |
1181 |
1.03e-2 |
SMART |
ZnF_C2H2
|
1187 |
1210 |
5.72e-1 |
SMART |
ZnF_C2H2
|
1216 |
1239 |
6.75e0 |
SMART |
ZnF_C2H2
|
1245 |
1268 |
9.58e-3 |
SMART |
ZnF_C2H2
|
1287 |
1310 |
1.64e-1 |
SMART |
ZnF_C2H2
|
1313 |
1335 |
1.1e-2 |
SMART |
ZnF_C2H2
|
1339 |
1362 |
4.05e-1 |
SMART |
ZnF_C2H2
|
1379 |
1401 |
4.45e0 |
SMART |
ZnF_C2H2
|
1407 |
1429 |
8.81e-2 |
SMART |
ZnF_C2H2
|
1435 |
1457 |
1.18e-2 |
SMART |
ZnF_C2H2
|
1463 |
1485 |
1.2e-3 |
SMART |
ZnF_C2H2
|
1491 |
1514 |
3.89e-3 |
SMART |
ZnF_C2H2
|
1520 |
1542 |
4.54e-4 |
SMART |
ZnF_C2H2
|
1548 |
1570 |
1.18e-2 |
SMART |
ZnF_C2H2
|
1576 |
1598 |
3.52e-1 |
SMART |
low complexity region
|
1628 |
1637 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113721
|
SMART Domains |
Protein: ENSMUSP00000109350 Gene: ENSMUSG00000026171
Domain | Start | End | E-Value | Type |
RWD
|
18 |
127 |
4.66e-31 |
SMART |
RING
|
134 |
197 |
3.53e-5 |
SMART |
low complexity region
|
367 |
377 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113732
|
SMART Domains |
Protein: ENSMUSP00000109361 Gene: ENSMUSG00000026172
Domain | Start | End | E-Value | Type |
BCS1_N
|
23 |
191 |
1.29e-86 |
SMART |
AAA
|
222 |
357 |
3.23e-11 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113732
|
SMART Domains |
Protein: ENSMUSP00000109361 Gene: ENSMUSG00000026172
Domain | Start | End | E-Value | Type |
BCS1_N
|
23 |
191 |
1.29e-86 |
SMART |
AAA
|
222 |
357 |
3.23e-11 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113733
|
SMART Domains |
Protein: ENSMUSP00000109362 Gene: ENSMUSG00000026172
Domain | Start | End | E-Value | Type |
BCS1_N
|
23 |
191 |
1.29e-86 |
SMART |
AAA
|
222 |
357 |
3.23e-11 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113733
|
SMART Domains |
Protein: ENSMUSP00000109362 Gene: ENSMUSG00000026172
Domain | Start | End | E-Value | Type |
BCS1_N
|
23 |
191 |
1.29e-86 |
SMART |
AAA
|
222 |
357 |
3.23e-11 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147464
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130112
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175414
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136865
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149649
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147011
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113737
|
SMART Domains |
Protein: ENSMUSP00000109366 Gene: ENSMUSG00000026135
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
93 |
115 |
9.81e1 |
SMART |
ZnF_C2H2
|
120 |
144 |
2.29e0 |
SMART |
ZnF_C2H2
|
147 |
169 |
9.96e-1 |
SMART |
low complexity region
|
214 |
226 |
N/A |
INTRINSIC |
ZnF_C2H2
|
260 |
282 |
9.96e-1 |
SMART |
ZnF_C2H2
|
288 |
308 |
1.26e1 |
SMART |
ZnF_C2H2
|
316 |
339 |
1.47e-3 |
SMART |
ZnF_C2H2
|
350 |
372 |
2.75e-3 |
SMART |
ZnF_C2H2
|
383 |
408 |
3.34e-2 |
SMART |
ZnF_C2H2
|
413 |
437 |
4.81e0 |
SMART |
ZnF_C2H2
|
440 |
463 |
7.05e-1 |
SMART |
ZnF_C2H2
|
469 |
492 |
2.17e-1 |
SMART |
ZnF_C2H2
|
498 |
520 |
1.56e-2 |
SMART |
ZnF_C2H2
|
526 |
548 |
8.94e-3 |
SMART |
ZnF_C2H2
|
554 |
576 |
1.38e-3 |
SMART |
ZnF_C2H2
|
582 |
604 |
9.44e-2 |
SMART |
ZnF_C2H2
|
609 |
632 |
1.26e-2 |
SMART |
ZnF_C2H2
|
641 |
664 |
1.31e0 |
SMART |
ZnF_C2H2
|
670 |
693 |
2.63e0 |
SMART |
low complexity region
|
800 |
816 |
N/A |
INTRINSIC |
low complexity region
|
850 |
866 |
N/A |
INTRINSIC |
low complexity region
|
893 |
904 |
N/A |
INTRINSIC |
ZnF_C2H2
|
936 |
956 |
2.01e1 |
SMART |
ZnF_C2H2
|
966 |
986 |
1.91e1 |
SMART |
low complexity region
|
1044 |
1057 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1084 |
1104 |
2.7e2 |
SMART |
low complexity region
|
1106 |
1119 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1162 |
1182 |
3.56e1 |
SMART |
ZnF_C2H2
|
1192 |
1215 |
4.98e-1 |
SMART |
ZnF_C2H2
|
1228 |
1251 |
2.49e-1 |
SMART |
ZnF_C2H2
|
1257 |
1279 |
1.03e-2 |
SMART |
ZnF_C2H2
|
1285 |
1308 |
5.72e-1 |
SMART |
ZnF_C2H2
|
1314 |
1337 |
6.75e0 |
SMART |
ZnF_C2H2
|
1343 |
1366 |
9.58e-3 |
SMART |
ZnF_C2H2
|
1385 |
1408 |
1.64e-1 |
SMART |
ZnF_C2H2
|
1411 |
1433 |
1.1e-2 |
SMART |
ZnF_C2H2
|
1437 |
1460 |
4.05e-1 |
SMART |
ZnF_C2H2
|
1477 |
1499 |
4.45e0 |
SMART |
ZnF_C2H2
|
1505 |
1527 |
8.81e-2 |
SMART |
ZnF_C2H2
|
1533 |
1555 |
1.18e-2 |
SMART |
ZnF_C2H2
|
1561 |
1583 |
1.2e-3 |
SMART |
ZnF_C2H2
|
1589 |
1612 |
3.89e-3 |
SMART |
ZnF_C2H2
|
1618 |
1640 |
4.54e-4 |
SMART |
ZnF_C2H2
|
1646 |
1668 |
1.18e-2 |
SMART |
ZnF_C2H2
|
1674 |
1696 |
3.52e-1 |
SMART |
low complexity region
|
1726 |
1735 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127921
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156613
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127938
|
SMART Domains |
Protein: ENSMUSP00000116973 Gene: ENSMUSG00000026171
Domain | Start | End | E-Value | Type |
RING
|
23 |
87 |
2.87e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135140
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene is a chaperone protein that is involved in the assembly of complex III (CIII), one of the five protein complexes of the mitochondrial respiratory chain, and is necessary for the insertion of the Rieske iron-sulfur (RISP) and Qcr10p proteins into the precomplex. Studies from the yeast ortholog of this protein indicate that it is targeted to the inner membrane of the mitochondria, despite the absence of an N-terminal targeting sequence. Positively charged amino acids located C-terminal to the transmembrane domain are thought to act as an internal targeting signal (PMID:8599931). Mutations in the human ortholog of this gene have been associated with GRACILE syndrome, characterized by Growth retardation, Amino aciduria, Cholestasis, Iron overload, Lactic acidosis, and Early death. Mouse models with the corresponding mutation mimic the phenotype of GRACILE syndrome and display decreased complex III activity and decreased electron transport capacity (PMID:21274865). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015] PHENOTYPE: Mice homozygous for a knock-in allele exhibit reduced growth, defects in the liver, kidney and testes, and mitochondrial hepatopathy with premature death. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
G |
16: 20,187,214 (GRCm39) |
M924T |
probably benign |
Het |
Afg2a |
A |
G |
3: 37,512,465 (GRCm39) |
|
probably benign |
Het |
B3gat2 |
A |
G |
1: 23,854,360 (GRCm39) |
Y218C |
probably damaging |
Het |
Cd109 |
T |
A |
9: 78,568,995 (GRCm39) |
I358N |
probably damaging |
Het |
Cd276 |
T |
C |
9: 58,444,719 (GRCm39) |
D84G |
possibly damaging |
Het |
Chsy1 |
T |
C |
7: 65,821,412 (GRCm39) |
F549S |
probably damaging |
Het |
Clca3a2 |
T |
C |
3: 144,787,024 (GRCm39) |
N549S |
probably benign |
Het |
Cma1 |
A |
G |
14: 56,181,271 (GRCm39) |
S32P |
possibly damaging |
Het |
Col23a1 |
G |
A |
11: 51,452,743 (GRCm39) |
|
probably null |
Het |
Ctps1 |
A |
T |
4: 120,420,021 (GRCm39) |
I131K |
probably benign |
Het |
Cyp2w1 |
T |
C |
5: 139,342,628 (GRCm39) |
L441P |
probably damaging |
Het |
Dnajc21 |
A |
G |
15: 10,461,441 (GRCm39) |
Y170H |
probably damaging |
Het |
Eif3a |
A |
T |
19: 60,761,164 (GRCm39) |
L648Q |
probably damaging |
Het |
Eif3l |
T |
A |
15: 78,959,477 (GRCm39) |
D6E |
probably benign |
Het |
Fam228a |
A |
T |
12: 4,781,484 (GRCm39) |
L125Q |
probably damaging |
Het |
Foxa2 |
A |
G |
2: 147,886,045 (GRCm39) |
C263R |
possibly damaging |
Het |
Gm17455 |
A |
G |
10: 60,239,107 (GRCm39) |
E124G |
possibly damaging |
Het |
Gpc6 |
T |
G |
14: 117,163,394 (GRCm39) |
L16R |
probably damaging |
Het |
Hdac9 |
A |
G |
12: 34,443,273 (GRCm39) |
|
probably benign |
Het |
Herc3 |
A |
G |
6: 58,845,679 (GRCm39) |
N400S |
probably benign |
Het |
Herc4 |
G |
A |
10: 63,152,586 (GRCm39) |
|
probably null |
Het |
Il12b |
A |
G |
11: 44,301,180 (GRCm39) |
|
probably null |
Het |
Lama4 |
A |
G |
10: 38,932,920 (GRCm39) |
R599G |
probably null |
Het |
Lrp1b |
T |
A |
2: 41,561,069 (GRCm39) |
E286V |
|
Het |
Mink1 |
C |
T |
11: 70,501,176 (GRCm39) |
P784S |
probably damaging |
Het |
Musk |
T |
C |
4: 58,366,921 (GRCm39) |
F513S |
probably benign |
Het |
Nfasc |
T |
A |
1: 132,538,186 (GRCm39) |
D474V |
probably damaging |
Het |
Nhsl3 |
C |
T |
4: 129,117,104 (GRCm39) |
R565H |
probably damaging |
Het |
Nos2 |
T |
G |
11: 78,831,170 (GRCm39) |
F420V |
probably damaging |
Het |
Or52ab2 |
A |
T |
7: 102,970,058 (GRCm39) |
I147L |
probably benign |
Het |
Pcdhb14 |
A |
G |
18: 37,582,904 (GRCm39) |
Y670C |
probably damaging |
Het |
Polr1b |
A |
G |
2: 128,944,899 (GRCm39) |
E65G |
probably damaging |
Het |
Ppp1r10 |
T |
G |
17: 36,238,904 (GRCm39) |
|
probably null |
Het |
Prag1 |
C |
T |
8: 36,606,655 (GRCm39) |
R799C |
probably damaging |
Het |
Prb1c |
T |
A |
6: 132,340,008 (GRCm39) |
|
probably null |
Het |
Ptch1 |
T |
C |
13: 63,681,421 (GRCm39) |
N485S |
probably benign |
Het |
Rgsl1 |
T |
C |
1: 153,683,454 (GRCm39) |
T19A |
probably damaging |
Het |
Sgpl1 |
A |
C |
10: 60,937,507 (GRCm39) |
S507A |
probably benign |
Het |
Sgpp2 |
A |
G |
1: 78,393,819 (GRCm39) |
D274G |
probably benign |
Het |
Skap1 |
A |
G |
11: 96,603,843 (GRCm39) |
D211G |
possibly damaging |
Het |
Smc3 |
A |
G |
19: 53,627,189 (GRCm39) |
T830A |
probably benign |
Het |
Smpd2 |
G |
A |
10: 41,364,074 (GRCm39) |
T215I |
possibly damaging |
Het |
Sntg2 |
T |
G |
12: 30,276,891 (GRCm39) |
Y387S |
possibly damaging |
Het |
Sorl1 |
T |
G |
9: 41,948,355 (GRCm39) |
D810A |
probably damaging |
Het |
Spop |
T |
A |
11: 95,372,909 (GRCm39) |
I217N |
probably damaging |
Het |
Stac2 |
T |
C |
11: 97,934,345 (GRCm39) |
R120G |
possibly damaging |
Het |
Stau1 |
A |
T |
2: 166,791,266 (GRCm39) |
*496R |
probably null |
Het |
Tmeff2 |
C |
T |
1: 50,967,206 (GRCm39) |
R34C |
probably damaging |
Het |
Treml2 |
C |
T |
17: 48,609,739 (GRCm39) |
A57V |
possibly damaging |
Het |
Vmn2r15 |
T |
C |
5: 109,445,250 (GRCm39) |
D58G |
probably benign |
Het |
Vmn2r7 |
T |
C |
3: 64,598,666 (GRCm39) |
I721M |
possibly damaging |
Het |
Vmn2r70 |
C |
A |
7: 85,208,295 (GRCm39) |
M727I |
probably benign |
Het |
Vwa8 |
T |
A |
14: 79,162,702 (GRCm39) |
C161S |
probably benign |
Het |
|
Other mutations in Bcs1l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01152:Bcs1l
|
APN |
1 |
74,631,174 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02394:Bcs1l
|
APN |
1 |
74,629,459 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02751:Bcs1l
|
APN |
1 |
74,628,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R3707:Bcs1l
|
UTSW |
1 |
74,629,264 (GRCm39) |
unclassified |
probably benign |
|
R3708:Bcs1l
|
UTSW |
1 |
74,629,264 (GRCm39) |
unclassified |
probably benign |
|
R4821:Bcs1l
|
UTSW |
1 |
74,631,144 (GRCm39) |
missense |
probably benign |
0.00 |
R6786:Bcs1l
|
UTSW |
1 |
74,629,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R9573:Bcs1l
|
UTSW |
1 |
74,629,492 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-12-18 |